甲状旁腺功能减退症和假性甲状旁腺功能减退症的遗传学。

Genetics of hypoparathyroidism and pseudohypoparathyroidism.

机构信息

Unit of Bone and Mineral Metabolism, Department of Internal Medicine, University of Florence, Medical School, Viale Pieraccini, 6 - 50139 Florence, Italy.

出版信息

J Endocrinol Invest. 2011 Jul;34(7 Suppl):27-34.

PMID:21985977

Abstract

Congenital hypoparathyroidism encompasses a series of disorders chracterized by the common biochimical feature of symptomatic hypocalcemia with concomitant hypophosphoremia. Clinical features differ among the various parathyroid-related hypocalcemic syndromes, as understandable on the basis of disorder-specific genetics. The present article reviews the various disorders related to both hypoparathyroid and pseudohypoparathyroid conditions, with a detailed report of the recent discoveries in term of the genetics of these syndromes.

摘要

先天性甲状旁腺功能减退症包括一系列疾病，其共同的生化特征为有症状的低钙血症伴发低磷血症。各种甲状旁腺相关低钙血症综合征的临床特征不同，这可以根据特定的遗传缺陷来理解。本文回顾了与甲状旁腺功能减退症和假性甲状旁腺功能减退症相关的各种疾病，并详细报告了这些综合征的遗传学方面的最新发现。